Characterization of the c.(-203)A>G variant in the glucocerebrosidase gene and its association with phenotype in Gaucher disease

Clinica Chimica Acta

Volumn 412, Issue 3-4, 2011, Pages 365-369

  Alfonso, Pilar ^a,b,c   Pampín, Sandra ^d,e   García Rodríguez, Beatriz ^b   Tejedor, Teresa ^f   Domínguez, Carmen ^a,g   Rodríguez Rey, Jose C ^d,e   Giraldo, Pilar ^a,b,c   Pocoví, Miguel ^a,c,f  

^a INSTITUTO DE SALUD CARLOS III   (Spain)

^b HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

^c INSTITUTO ARAGONÉS DE CIENCIAS DE LA SALUD   (Spain)

^d UNIVERSITY OF CANTABRIA   (Spain)

^e HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

^f UNIVERSITY OF ZARAGOZA   (Spain)

^g HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

Author keywords

Functional studies; Gaucher disease; GBA promoter

Indexed keywords

CHITOTRIOSIDASE; GLUCOSYLCERAMIDASE; IMIGLUCERASE; LUCIFERASE; VELAGLUCERASE ALFA;

ADULT; ARTICLE; CELL CULTURE; CELL STRAIN HEPG2; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ASSAY; EXON; FEMALE; GAUCHER DISEASE; GEL MOBILITY SHIFT ASSAY; GENE; GENE ACTIVITY; GENE FREQUENCY; GENE MUTATION; GENETIC TRANSCRIPTION; GENETIC TRANSFECTION; GENETIC VARIABILITY; GLUCOCEREBROSIDASE GENE; HUMAN; HUMAN CELL; MALE; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; SPAIN;

ADULT; CHILD, PRESCHOOL; FEMALE; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HUMANS; MALE; MIDDLE AGED; PHENOTYPE; POLYMORPHISM, GENETIC; PROMOTER REGIONS, GENETIC;

EID: 78650241282     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2010.11.013     Document Type: Article

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